Energy in Action by MitoAction

PARENTS AS RARE - EPISODE 077 A Rare Revolution - HITMC Meets Rare Disease with Grace Vinton, Kristy Dickinson, & Effie Parks Grace Vinton, Kristy Dickinson and Effie Parks join me to continue our conversations from the Healthcare and IT Marketing Conference in February. Enjoy this special cross-collaboration of HIT Like a Girl, Parents As Rare, Once Upon a Gene, and Simply Unbreakable. Be sure to check out these podcasts and I'd like to also encourage you to take one actionable step this month to empower the rare disease voice in some way! EPISODE HIGHLIGHTS Kristy, can you share about your personal journey with rare disease and how it has inspired the work that you're doing today? I was diagnosed at the age of 37 with Ehlers-Danlos syndrome, for which there's currently no cure. My journey to diagnosis was bumpy and I experienced a lot of misdiagnosis, treatments that failed, tests, procedures and twists and turns. It was a serendipitous event that ultimately led me to my diagnosis. With a patient-centered healthcare system, it wouldn't have taken me so long to get diagnosed because my condition is genetic and I had numerous incidents through childhood and young adulthood where my disease presented itself. I got my diagnosis by seeing a nutritionist when everything else had failed. I have made it my life's mission to continue to help the rear community in any way that I can. I founded a company called Chronically Simple, a web-based and mobile app that serves as a disease management tool. Adam, can you share about your personal journey with rare disease and how it has inspired the work that you're doing today? About four years ago, I was a pretty healthy young guy when symptoms started popping up out of seemingly nowhere. About two years ago, I got involved in social media and advocacy, trying to find community. I felt so isolated and so alone as a parent who was going through this and working through a rare disease diagnosis. Through social media, I found community, really helpful resources, and I was excited to finally be able to not feel so alone. About a year ago, I started my own podcast and started doing speaking engagements and it's been really a wonderful journey since then. I call myself a dadvocate- I'm a dad first and a rare disease advocate second. Effie, can you share about your personal journey with rare disease and how it has inspired the work that you're doing today? My husband and I always wanted to be parents and we were so excited when our first little baby was coming. We had ideas, plans and fictional expectations, so we were shocked when he was born super small, and he wouldn't eat, sleep or do anything typically developing babies would do. We were brushed off for four months by doctors telling us we were just worried new parents. And finally he was admitted into a children's hospital for about a week where a geneticist ordered whole exome sequencing. They took samples from my husband and I and about eight months later we got a diagnosis of a rare disorder called CTNNB1. The geneticist told us that he was number 30 in the world with that diagnosis and that she didn't know anything about it. After about two years of trying to find answers and figure out what to do for my son myself, and trying to navigate the healthcare system with no luck, I started a podcast as a platform to tell my story and to hold a place for other people to do the same. Effie, how does the diagnostic odyssey add color and commentary to the healthcare and healthcare innovation landscap

PARENTS AS RARE - EPISODE 076 Dr. Neena Nizar - Share Your #RareDiseaseTruth & Give Love A Chance Dr. Neena Nizar started the #rarediseasetruth movement. She was misdiagnosed for decades, but now knows she shares a diagnosis with her two sons. Neena is a wonderful person, incredible advocate and the founder of The Jansen's Foundation. EPISODE HIGHLIGHTS Can you tell us about yourself and your connection to the rare disease community? I have a rare disease called Jansen Metaphyseal Chondrodysplasia, a skeletal disorder that affects less than 30 people worldwide. I had several misdiagnoses and was finally diagnosed after I had my second son. I married my husband and we were told that we wouldn't have children. We were in the process of adopting when I became pregnant with our first son. He was born healthy and we didn't know anything was wrong. Two years later our second son was born and we were notified during the pregnancy that something wasn't right. That's where the quest began and we started searching for a diagnosis. What considerations did you and your husband have around starting a family? We talked about it and had no idea if what I had would be passed on because no one else in my family shared my disease. Because we didn't know at the time what I had or a good understanding of it and we really did believe the doctors that told us we wouldn't conceive. We had conversations around the love we had to give a child, whether natural or adopted, and we knew we were ready for it. How can someone respond when they're navigating diagnosis and feeling disregarded? I have learned to filter noise, to take away the emotion of a situation. If a doctor is saying something based on what he sees, I've learned in those instances to trust myself more. You owe it to yourself to be strong in those moments and see it for what it is-- that the doctor doesn't see or hear the full story. Can you tell us about the #rarediseasetruth movement? The hashtag was an organic creation that started during the pandemic. It upset me that covid treatments were released so quickly and it raised questions about why the rare disease community didn't have treatments. I started venting on social media, calling out that we matter too. The hashtag caught on fire in ways I couldn't have imagined and people still use it. It spotlights rare everyday, and we're growing the population of people who are speaking openly and fearlessly. LINKS & RESOURCES MENTIONED Hashtag #rarediseasetruth https://twitter.com/hashtag/RareDiseaseTruth?src=hashtag_click Neena Nizar on Twitter https://twitter.com/NeenaNizar The Jansen's Foundation https://www.thejansensfoundation.org/ FOLLOW ADAM JOHNSON Twitter @RareDiseaseDad https://twitter.com/rarediseasedad Instagram @RareDiseaseDad https://www.instagram.com/rarediseasedad/ LinkedIn https://www.linkedin.com/in/adam-johnson-8a1473125 CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mitoaction/ LinkedIn https://www.linkedin.com/company/mitoaction

ENERGY IN ACTION - EPISODE 075 Dalia’s Wish Makes Dreams Come True for the Del Forno Family Nicole Del Forno is the mom of Gloria. Her family recently went on a wish trip at Give Kids the World Village and she joins us to share their experience. EPISODE HIGHLIGHTS Can you tell us about your family and rare disease journey? My daughter Gloria was born in 2018. At about 6 months old, we noticed she was reaching most milestones, but not babbling like a typical baby her age. At 9 months old, we were referred to a neurologist and then a geneticist. After genetic testing, we received a diagnosis of mitochondrial disease. Two years later with treatment, Gloria has progressed and we're fortunate that she's doing really well. Your family was a recent recipient of Dalia's Wish program. Can you talk about your experience? We were so excited to be granted the trip and couldn't imagine how wonderful it would be. Her school announced the trip to her with all of her friends present and it was such a cool experience. We spent a week at Give Kids the World Village and we didn't have to worry about a single thing. It is the most magical place and Gloria felt like a normal person there, everything was accessible, she had the freedom to be independent and everyone spoke her language. All of the volunteers work so hard to make kids feel special. What was your favorite part of your family's wish trip? My favorite moment of the whole experience was when Gloria went into the ice cream parlor and got her own ice cream and sprinkles because this was the first time that she was able to do something completely independent, without prompting or support. What is your advice to other families granted a trip through Delia's Wish program? There are Give Kids the World Village groups you can join on social media where you can get information about the village and everything else you need to know. If you come in the summer, be prepared for Florida's hot weather. Plan to spend a lot of time at the village because there is a lot to do there. LINKS & RESOURCES MENTIONED Give Kids the World Village https://www.gktw.org/ Dalia’s Wish https://www.mitoaction.org/wishes/ MitoSantas https://www.mitoaction.org/mito-santas/ MitoAction Newsletter https://www.mitoaction.org/newsletter-signup/ CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://ww

PARENTS AS RARE - EPISODE 074 Exploring Palliative Care Kimberly Matias, a social worker, and Michelle Hurty, a physician assistant, join me for an exploratory conversation about palliative care to dispel the myths that exist and provide information to my listeners. EPISODE HIGHLIGHTS What is palliative care? Palliative care is a multi-disciplinary service that gets involved with patients and their families after the diagnosis of a serious or life-limiting illness. We work alongside the primary care team to coordinate communication, clarify any confusion or information, help the family along the journey and explore treatment goals. While hospice service is focused on end-of-life care with a six month or less prognosis, life expectancy isn't a condition for palliative service and we may work with patients for many, many years. Our role is to advocate for the patient. Who makes up a palliative care team? In order to provide full care, most palliative care teams have a multi-disciplinary team which may include a social worker, chaplain, physicians, a physician assistant, nurse practitioner and pharmacist. With disease progression and symptom presentation being different for every patient, who is a good candidate for palliative care? Our goal is to capture people upstream, recognizing their treatment goals are going to change over time as their disease progresses or evolves. Palliate care is for any point after someone receives a diagnosis and we're happy to get involved and be helpful all along the way. At an initial palliative care appointment, what questions are helpful to patients and families to ask and how can they prepare? Go in with an open mind, be open to having conversations and consider what you would like your healthcare to look like. It's helpful to think in advance about how things are going at home and what kind of resources are needed. Identify your durable power of attorney for healthcare in advance and if you have a living will, bring those documents with you. LINKS & RESOURCES MENTIONED Get Palliative Care https://getpalliativecare.org/ American Academy of Hospice and Palliative Medicine https://aahpm.org/ FOLLOW ADAM JOHNSON Twitter @RareDiseaseDad https://twitter.com/rarediseasedad Instagram @RareDiseaseDad https://www.instagram.com/rarediseasedad/ LinkedIn https://www.linkedin.com/in/adam-johnson-8a1473125 CONNECT WITH MITOACTION

PARENTS AS RARE - EPISODE 073 Challenging The Status Quo - Robin Powers Robin Powers is a mother who has a rare disease and she's raising a son who has a rare disease. She's a single parent going to school, yet she still manages to knock out important advocacy-related work and projects, all while supporting others. We discuss navigating parenting as parents with rare diseases. EPISODE HIGHLIGHTS Can you share what your connection to Ehlers-Danlos syndrome (EDS) is? As a teen, I dislocated my knee in my sleep. I did my research and proposed to my physician that I had EDS. I saw a geneticist to get diagnosed and subsequently found support in the rare community. What is the importance of having perseverance through the diagnostic odyssey? I like to challenge the status quo because if you don't do it, no one else is going to do it after you. I've seen my son stand up for himself and advocate for himself many times and it wasn't because I taught him to do it-- he saw me doing it. I personally took the statistics and changed the odds by changing the factors and becoming more perseverant, not taking n for an answer, taking every opportunity I could find, and never being too afraid to ask. I knew that would turn my hope into action and would make things very possible. What is your experience parenting while having a rare disease? It's challenging to not have a caregiver and need a caregiver and then care for someone else and be their rare champion of hope. It's taxing and emotional because I always feel like I'm failing and I feel guilt when I need to rest or something that takes away from my son and our time together. I worry about him in the future and hope that what I'm adding to his life isn't going to be a deficit. How do you manage being a parent with a rare disease and parenting a child with a rare disease? I'm a single parent and I am the only raregiver. When managing our conditions, I always address any concerns for him first because he's depending on me. Even though I should put my oxygen mask on first, I know I can probably hold my breath for a little while. I remember suffering at his age and not having help and I won't have the same for my son. So I hold my breath, take care of my son and do the best I can to take care of myself. What tips do you have for parents in a similar situation, having a rare disease and parenting a child with rare disease? I came up with the terms rareabilty and rareativity. Rareativity is accepting what you can do for the day. If you have ten things to do, but you can only do three, postpone the remaining seven things for the next day. I accept that I can only do what I can do. Rareability is the idea of bracing the things that you're good at and fostering the skills you're good at. I use mindfulness to stay ahead in the game, to be mindful of the fact that I shouldn't be hard on myself for something and that I'm doing the best I can. Mindfulness of reality makes me feel lucky to have life, despite how hard it is. LINKS & RESOURCES MENTIONED The Disorder Channel https://www.thedisordercollection.com/

ENERGY IN ACTION - EPISODE 072 The Navigation Project Lauren Kopsick and Ivy Braun are the founders of the Healthcare Navigation Project, formerly known as Parent It Forward. This is the first independent public healthcare literacy and life care project for all youth as they transition to adult care. They share their advice for transitional planning after pediatric care. EPISODE HIGHLIGHTS Can you share what The Healthcare Navigation Project does? We consist of five modules which includes basic healthcare navigation, navigating specialty healthcare, advocating for mental health, let's talk pharmacy and customer care and the future of healthcare. The program starts with basic healthcare navigation-- learning the 27 keywords you need to know and will teach you about developments and changes so patients and families are informed and they can share information with their doctors. This module also teaches patients how to pick a physician, about body language and telephone skills. A script is provided to call a physician's office so they know what questions they need to ask. In another module, we practice calling pharmacists and learning about medications and how to get them. In another module, we call 211, which is the keeper of every service for a state. What are the five guiding principles for advocating? If it doesn't make sense to you, it probably doesn't make sense and you shouldn't stop until you can make sense of it. 2. People are people-- good, bad and indifferent, and you don't have to engage with someone who makes you feel uncomfortable. 3. Research, research and more research. 4. Never give up anything once you have it. 5. The Patient Centered Medical Home. Have you presented to rare disease groups? We are working with the Taproot Foundation which acts as a recruiting firm for nonprofits. They're helping us with a program that will be in January 2023. What is the importance of sharing what we know with others to build their healthcare knowledge and move expectations forward? Patients and users of healthcare are the customers of the healthcare system, so if you're unhappy with a service, you have to push it forward. Learn the system and how to push forward and ask about other options. Keep pushing boundaries. LINKS & RESOURCES MENTIONED The Healthcare Navigation Project https://thehealthcarenavigationproject.org/ National Committee of Quality Assurance https://www.ncqa.org/ Got Transition https://gottransition.org/ Taproot Foundation https://taprootfoundation.org/ CONNECT WITH MITOACTION Website https://www.mitoaction.or

PARENTS AS RARE - EPISODE 070 Meeting My MELAS Mito Friend - Elizabeth Wood I met Elizabeth Wood, a fellow mito patient, through connections at Mito Action. Elizabeth was the first person from the mito and rare disease communities that I was fortunate enough to meet in person. I was grateful to meet with her, discussing being rare disease parents and mitochondrial disease. I learned a lot from our conversation and reuniting to record this podcast was just as helpful. EPISODE HIGHLIGHTS Can you share about yourself and your journey? I'm still on the diagnostic odyssey with a suspected diagnosis of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS). My journey has been long-term and I've struggled with symptoms my entire life. I recently gave up my professional life as a researcher at a think tank where I did policy work and advising. I'm a single parent with a child with special needs and rare conditions. What is it like being a parent with a rare disease and parenting a child with a rare disease? My daughter has 16p11.2 deletion syndrome which causes intellectual disability, developmental delays, cardiac issues and epilepsy. She has another rare disease called alternating hemiplegia of childhood, an unpredictable neurological disorder. The physical requirements required of me to lift and care for her when she can't stand, walk or eat is becoming harder as she grows. How do you interact with your daughter when you can't be as active as you'd like? There are activities I would have never thought to do with my daughter if it weren't for our limitations. When neither of us feels like doing anything, we can still have fun and we make sure to carve out special time together every day. How do you create special time to bond with your daughter? It varies day-to-day depending on what we're up for, but a lot of our special time is indoors at the end of the day. If I can't hold a book up for her to read, we will work together to recite our own story and determine what happens through using mad libs. We've started recording some of them to have later because they're special. What benefits are you seeing for yourself and your daughter as a result of seeing a physiatrist? This is my new favorite medical professional because they're helpful and solution-oriented. For us, it's been a much different medical experience. Appointments are concrete, the physical exams and testing has led to actual insight into what's happening in our bodies. LINKS & RESOURCES MENTIONED No Time Like the Future: An Optimist Considers Mortality - Michael J. Fox https://www.amazon.com/Time-Like-Future-Considers-Mortality/dp/1250265614 Mitochondrial Myopathy Encephalopathy Lactic Acidosis and Stroke-Like Episodes (MELAS)

ENERGY IN ACTION - EPISODE 069 Give Kids the World with Justin Kiser Justin Kiser is a dad to Riley, who is five years old and has a rare form of mitochondrial disease. The Kiser family was a recipient of a Mito Action and Give Kids the World wish trip. Justin shares details about their trip and what it meant to their family. EPISODE HIGHLIGHTS Can you tell us about yourself and your family? I'm a husband and father of four. We came into the mito family through my youngest daughter who has a rare mitochondrial disorder called ECHS1. She was diagnosed about three years ago through genetic markers after being born to her biological parents addicted to substances. We're not sure if her disease was hereditary or environmental. What was your experience as a recipient family of a Give Kids the World trip? It was amazing. The fact that everything was paid for, not just for Riley, but for our whole family of six shocked me. The trip wasn't just monumental for Riley- it was amazing for all of us and we had a great time together as a family. The resort was very clean, the villas were spacious enough for everyone, and everything was organized really well. We visited each Disney park, both Universal parks and Sea World. Everywhere we went, we were treated like royalty and there was so much care, love and compassion extended to Riley. What was Riley's favorite part of the wish trip? Her favorite part was being able to eat ice cream all day, even for breakfast. A lot of her favorite parts of the trip was at the Give Kids the World resort, seeing the star fairy and having her star placed at the castle. LINKS AND RESOURCES MENTIONED Give Kids the World https://www.gktw.org/ Trip Wish Nomination https://www.mitoaction.org/wishes/ CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mitoaction/ LinkedIn https://www.linkedin.com/company/mitoaction

PARENTS AS RARE - EPISODE 068 Special Episode - Live from the 2022 Global Genes Rare Patient Advocacy Summit with Tim McLerran, Head of Product, Medical Intelligence One, Inc. Tim McLerran is the Co-Founder and Head of Product at Medical Intelligence One, where the mission is to care for patients based on their own deeply informative data with wisdom derived from a partnership between human and machine intelligence trained on data from billions of other humans and all of the world's medical knowledge. Tim is also launching and hosting a show called Diagnostic Odysseys, where they dive into patient stories in hopes of shortening the diagnostic odysseys patients endure. EPISODE HIGHLIGHTS What are your thoughts on patient care and face-to-face time? I got into medicine because I wanted to have a relationship with my patients. Coming through training, I could see that was not the world I was coming into, which in part is why I decided to change my career direction and focus instead on something more connected. How has your medical career transitioned into your role with Medical Intelligence One? While researching in medical school to develop methods of rapidly scanning blood, we generated large data sets of thousands of people. There was a moment that I remember staring at the numbers and realizing human minds need help from machine minds to make full use of the data. That made an impression on me, and through my clinical training, additional factors came together that inspired me to consider taking a deeper dive into bridging human and machine intelligence in medicine. I went from the clinical track to full time researching, attending conferences, reading books and reaching out to mentors. Can you tell us about Enola? Medical data is organized and stored in the electronic medical records system in a way that isn't conducive to downstream analysis and there are better ways to organize data. A colleague and I turned our attention to rare diseases and building a system where a patients can enter clinical findings, discover diseases associated with clinical findings and narrow results based on additional related findings. Once this product is developed and launched, it will be available to patients directly. LINKS & RESOURCES MENTIONED Medical Intelligence One https://www.mi1.ai/ Once Upon a Gene Podcast https://effieparks.com/podcast Enola https://www.mi1.ai/enola Tim McLerran on Linkedin https://www.linkedin.com/in/tim-mclerran/ Tim McLerran on Instagram https://www.instagram.com/p/Cj0TSFhuoVo/ FOLLOW ADAM JOHNSON Twitter @RareDiseaseDad

ENERGY IN ACTION - EPISODE 067 What's It Like Being a Research Patient with UDN - Ted Will Tell You In addition to being the host of the Energy in Action Podcast, Stephanie is a mom to three children. Stephanie's son Ted is the youngest of three siblings with two older sisters. Ted and Stephanie recount the mitochondrial disease journey from their shared mother-and-son perspectives. EPISODE HIGHLIGHTS What compels me to host this podcast is my need to find my tribe. As an early adopter of rare disease and mitochondrial dysfunction, I was often alone, never understood and my peers couldn't relate to me. The internet wasn't as robust as it is now and social media wasn't a thing. We were told that Ted was un-treatable and had a 10-12 year expected lifespan. I began researching and found Mito Action. I have found other parents who speak my language, who understand my heartache, my joy and my absolute frantic need to find answers and treatments. In 2013, Ted had a serious illness and was septic from a line infection. For 23 days, Ted's body would improve and then backslide. It was during this time when we noticed neurological concerns and Ted had the first of many MRIs. A growth was discovered near Ted's pituitary gland. With more research, I found a research study happening at the NIH and submitted all the necessary documents. When I heard back from the NIH, they wanted to see Ted and two weeks later we went to DC. It was there that we became part of the mini study and the Undiagnosed Disease Network. For the first year and a half of being part of the mini study, we did a lot of back and forth from Minnesota to DC where we would stay for two or three days. It was during one of those visits where they started realizing that Ted's immune system was a bigger piece of the diagnosis puzzle. Ted was getting super flu shots and a pneumonia vaccine every year, which most people usually get once every five to 10 years. It was also confirmed that Ted had a tumor on his pituitary gland and he started developing side effects. After graduating high school and enrolling in a local community college, Ted's pituitary tumor started affecting him at work and school. He began experiencing dizziness, headaches, migraines, loss of appetite, memory loss, and he lost over 20 pounds in less than a month. After surgery to remove the surgery, there's been no new growth or evidence of the tumor after a year. CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mitoaction/ LinkedIn

ENERGY IN ACTION - EPISODE 066 Alex the Great and LCHAD Alex is in her second year of college at Texas Tech where she is studying human development and family sciences. She also has LCHAD, a long-chain fatty acid oxidation disorder. EPISODE HIGHLIGHTS Can you introduce yourself and share more about LCHAD? I'm 20 years old and a sophomore at Texas Tech University. LCHAD is a rare genetic metabolic disorder that prevents me from using fat for energy. I eat a low fat diet because my condition prevents my body from breaking down long-chain fats. I take supplements that have fats my body can use and I include limited essential fats. How do you manage your way of eating? I've known of my disease my whole life, so I've had a lot of experience reading nutritional labels and eating the right diet for me. That has allowed me to go to restaurants and order food that is within my limitations. I use alternatives like powdered peanut butter instead of jar peanut butter so I can eat a lot of typical fatty foods without being too restrictive. On campus I am able to eat in the dining hall and request foods be prepared in a way that I can eat them, but there's also a dietitian on campus who keeps a nutrition log I can refer to when I need to. What is your advice for other rare disease students considering going away to college? I was very determined, so it's worth trying, taking on a little more responsibility and going after dreams. It takes work to manage rare disease at college, but it's doable. Plan with your parents to make sure there are people to support you while you adjust. CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mitoaction/ LinkedIn https://www.linkedin.com/company/mitoaction

PARENTS AS RARE - EPISODE 065 Tara Zier - Stiff Person Syndrome Research Foundation and Finding Your Purpose Tara Zier is a rare disease patient, mother and the Founder and President of The Stiff Person Syndrome Research Foundation, where the vision is that all people with Stiff Person Syndrome (SPS) receive a prompt diagnosis, compassionate care, effective treatments and a cure. The mission is to raise awareness of SPS, to support research for better treatments and a cure for SPS while strengthening the community through education and collaboration. EPISODE HIGHLIGHTS Can you share your rare disease story? I came into the rare disease space because I have a rare disease called Stiff Person Syndrome (SPS), which is a rare neurological disease with autoimmune features. I was diagnosed in 2017 after a three year long diagnostic odyssey, going from doctor to doctor and receiving misdiagnosis. What was it like to get your diagnosis? I was relieved to have an answer. There was a lot of pressure and anxiety around parenting my children and protecting them from trauma as I went through the diagnostic odyssey, so there was also relief from that. I moved into the education phase to learn about the disease and determine a comprehensive approach to healing and getting better, despite SPS being a progressive disease. How has your SPS diagnosis impacted your kids? My kids have a good recollection of what I was like before my diagnosis, so it was hard for me knowing they were witnessing the changes. We became closer through my diagnosis in a lot of ways and I'm honest with them about the unknowns so we can be grateful for each day. How did you communicate your diagnosis with your children? I relied on therapists to guide me on what to say and how to say it. I had to decide how much information to give them because the disease is a spectrum condition with different levels of disability. I had to be transparent about not knowing what the future looked like. I let them know that they could research, but that I preferred we do it together so we could talk about it. Can you share what The Stiff Person Syndrome Research Foundation is doing right now? We were fortunate to get the Chan Zuckerberg Rare As One grant, which offers three years of funding for organizational capacity for sustainability and networking. They also offer training and support across all facets of running a rare disease nonprofit. Since we've received the grant, we've expanded our board, brought on three members for our medical advisory board- all experts in SPS. We're currently in the process of developing our patient contact registry natural history studies. LINKS & RESOURCES MENTIONED The Stiff Person Syndrome Research Foundation https://stiffperson.org/ SPSRF on Facebook https://www.facebook.com/TheSPSRF SPSRF on Twitter https://twitter.com/TheSPSRF

ENERGY IN ACTION - EPISODE 064 Lovevery - Purposeful Play Customized for all Abilities Maral Amani is a Licensed Physical Therapist and the Disability Support Specialist at Lovevery, a toy company that helps families, educators and therapists find the right toys and the right tools to help develop confidence through play. EPISODE HIGHLIGHTS Can you tell us about yourself and your work? I'm a Physical Therapist, specializing in children ages 0-3 and early intervention. At Lovevery, I'm the Disability Support Specialist for a recently launched program that allows families to purchase play kits without a subscription. Through communicating with me, I'm able to help families choose specific play kits that are best for children with a focus on skill-based development and strength-based development. Families can reach out to me through the website, answer questions about their children, share what skills they're developing, and I will recommend a play kit that will also include a play guide. What kits are available for children with mobility issues? As a Physical Therapist, I focus on big movements, core strengthening, leg strengthening, bearing weight through the arms. For tiny movements, it's best to put children in a comfortable position to play so they're reducing the energy demand of holding themselves up so their energy can focus on fine motor movement. If you purchase a play kit that has toys that can't be used right away or used in the typical way, think about how the toy can be enjoyed with modifications. What do you recommend for developing executive functioning skills? My favorite play kit for that is the Inspector Kit with the ball drop box. It comes with balls inside the box, but it rolls out at an angle to the side. There's auditory feedback from the wooden ball rolling and dropping. I also like using our Bright & Light Play Scarf to cover books and other objects children are interested in. This is good for working on object permanence and executive functioning. How do families access the Lovevery disability service? Complete the form or email me at support.specialist@lovevery.com and we can discuss which play kit is right for your child through a one-on-one, personalized experience. We have a disability expert council with a lot of experience working with children with disabilities and they provide a lot of guidance to me to ensure we're considering multiple angles of each child's development. We are here for all families and we want families to feel seen and supported. Please email me with any questions you have. LINKS AND RESOURCES MENTIONED Lovevery https://lovevery.com/ The Inspector Play Kit https://lovevery.com/products/the-play-kits-the-inspector The Explorer Play Kit https://lovevery.com/products/th

ENERGY IN ACTION - EPISODE 063 Meet Devin the Genetic Counselor and Mito Patient Devin Shuman is a Genetic Counselor based outside of Seattle, Washington. At age 16, she was diagnosed with Mitochondrial Depletion Syndrome (MDS). EPISODE HIGHLIGHTS How are you connected to the mito community? I was diagnosed with Mitochondrial Depletion Syndrome (MDS) at age 16. My brother went through the diagnostic odyssey and also has the same form of mito, so while I had symptoms my whole life, I had a presumptuous diagnosis until age 16. In college, I attended a genetic counseling event that inspired me to become a Genetic Counselor. Can you share about your work as a Genetic Counselor? I currently work in telemedicine for a nonprofit called Genetic Support Foundation. The company provides genetic counseling directly to patients without the waitlist most genetic clinics have, and to break down barriers patients typically experience in a non-biased way. My job is to educate patients around their options. As a clinician, how do you guide families through clinical testing? My first job out of school was working in genetics at an autism center which taught me a lot about treating symptoms and when testing is or is not right for a patient. Clinical testing can sometimes help with medical management, open the door to clinical trials and connect families with communities. There are expense considerations in addition to weighing how answers will help with medical management and family planning that I help families make decisions around and have conversations about. LINKS AND RESOURCES MENTIONED Genetic Support Foundation https://geneticsupportfoundation.org/ UDN Participant Engagement and Empowerment Resource (PEER) Group https://undiagnosed.hms.harvard.edu/resources/peer/ CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mitoaction/ LinkedIn https://www.linkedin.com/company/mitoaction

PARENTS AS RARE - EPISODE 062 Mary Morlino - Parenting with Sarcoidosis & Discussing the Global Genes 2022 RARE Patient Advocacy Summit Mary Morlino is the Rare Concierge Patient Services Manager at Global Genes. Mary and I will be speaking on a Parenting While Rare panel at the upcoming 2022 RARE Patient Advocacy Summit. The summit is one of the world’s largest gatherings of rare disease patients, caregivers, advocates, healthcare professionals, researchers, partners, and allies. Visit the Global Genes website to get more information about attending in-person in San Diego or virtually, September 12th-14th. EPISODE HIGHLIGHTS Can you tell us about yourself and how rare disease has impacted you? I work at Global Genes and I'm the Co-Founder of MarylandRARE, an organization that serves the rare disease community in the state of Maryland. I have two young adult daughters. When they were 7 and 9 years old, I was visiting my sister in California when I collapsed for an unknown reason. I spent a week in the hospital undergoing various testing and was released without any answers, only confirmation that something was wrong with my heart. I flew home and a day later I was hospitalized again, underwent additional testing and had a pacemaker put in. Several years later, my health started to decline rapidly and I had to wear an external defibrillator vest while I consulted with heart transplant doctors. A final test was a biopsy that revealed I had Sarcoidosis, an inflammatory disease where groups of cells create granulomas which inhibit blood flow and function. What were the conversations like with your daughters about your diagnosis? It was difficult because I was in the hospital, there was no hiding it, and my children were old enough to Google whatever they wanted about the disease. We had a series of conversations, giving them information and leaving the door open for future conversations or questions. Even as adults, we still talk, but they monitor me and concern themselves with how I'm doing and I wish they didn't have to feel that way. What advice do you have for navigating work, advocacy, parenting and disease? I've had to shift to a less physical life and find a balance of personal growth and personal contribution to help me feel valued. This is why I got into advocacy- it fed me energy, allowed me to contribute and helped me to feel positive about my value in the world. I disregarded and eliminated anything in my life that didn't need focus and energy. My best tips are to schedule rest, eat healthy, have compassion for your body and balance your priorities. If you can, find something valuable to you and focus on it. LINKS & RESOURCES MENTIONED Global Genes https://globalgenes.org/ MarylandRARE https://marylandrare.org/ 2022 RARE Patient Advocacy Summit https://globalgenes.org/event/rare-patient-advocacy-summit/ Foundation For Sarcoidosis Research

ENERGY IN ACTION - EPISODE 061 Jacob Shinder and CPEO+ Jacob Shinder is a 22 year old college student who was diagnosed with CPEO+ at the age of 12. He joins us to talk about his experience and how it has shaped his goals for the future. EPISODE HIGHLIGHTS What is CPEO? Chronic progressive external ophthalmoplegia (CPEO) is a drooping of the eyelids. I have CPEO+ which also causes overall body weakness, affecting my stomach and bowels, muscles and brain. What symptoms were you experiencing that led to your parents seeking out a diagnosis for you? In middle school, I'd often see double, which would come on and go away often. I went to the nurse one day when I could only see double in class. My mom reached out to my pediatrician initially and eventually was seen by multiple specialists. Eventually a muscle biopsy led to a diagnosis. What is your current treatment for CPEO? I take the mito cocktail, a lot of vitamins and medication for my heart. What was school like for you? In middle school and high school, I had an IEP which allowed for extra time on tests. More difficult than any academic struggles was the social aspect with kids asking me questions and teasing me. One of the better decisions I made was to participate in graphic design classes for half the day at a local technical college. I also worked part time through school. What are you up to right now? I just graduated college and I'll be going to NYU in the fall for social work. I work with a developmentally disabled person to take care of them through the day. I really want to help people and I feel like social work is a great way to do that. CONNECT WITH JACOB Facebook https://www.facebook.com/jacob.shinder CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mitoaction/ LinkedIn https://www.linkedin.com/company/mitoaction

ENERGY IN ACTION - EPISODE 060 Meet the Bartels Jake and Cami Bartle have been married for three years and they join us to share their rare disease experience and how the diagnosis has affected them as a young couple. EPISODE HIGHLIGHTS Cami, what is it like to be married to someone with a rare disease? We didn't know that Jake had mitochondrial disease until 5 months after we were married. He had a seizure, was in the hospital and he received a diagnosis. Having a sudden diagnosis was shocking and made me realize nothing is guaranteed. At the beginning, the experience was isolating, but we've found community through the United Mitochondrial Disease Foundation, and I've been able to connect with more caregivers. Jake, what do you do for a living? I went to school and got my Masters degree in elementary education and I'll be teaching 6th grade social studies. After my diagnosis, I looked up life expectancy and it helped me to reflect and re-evaluate what I wanted to do with my life. Cami, what do you do for a living? I work in marketing and I'm thankful to work from home so I can better support Jake. I'm also thankful for a manager and team that are understanding when I have to be at doctors appointments or away from work to be more available to Jake. As a young couple, how do you structure work/life balance and make every day count? We try to have dinner together every night and watch tv together. We're intentional about not being on our phones when we're together and we take date night very seriously. We're intentional about the time we have together and we make sure to create time for each other. How did you cope with receiving a diagnosis during the pandemic with limited resources available to you? We both did individual therapy and we did some work together to get unstuck. Going through the diagnosis wasn't easy for either of us and we had to process through it individually for differing reasons. It took time to come to terms with the diagnosis and what it meant for our future. We're always working on controlling what we can and letting go of what we can't. LINKS & RESOURCES MENTIONED United Mitochondrial Disease Foundation https://www.umdf.org/ Instagram: @us_and_melas https://www.instagram.com/us_and_melas/ CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram

PARENTS AS RARE - EPISODE 059 Owning My Story Adam Johnson's world was turned upside down when he went from being a healthy 35 year old with an exciting path ahead, to a 35 year old with a rare disease that left him wondering what could have been. It's his story and he owns it and he adds to it through rare disease advocacy. As a self-proclaimed dadvocate, he learned to own his story through blogging, podcasting and sharing on social media. EPISODE HIGHLIGHTS In the early stages of his symptom manifestation and diagnostic process, Adam felt alone, as if he were the only person going through a similar struggle. No one he knew, especially at his age, was going through the same experience. He knew there had to be others and initially used Twitter to turn his hopes of offering support and advocacy into action and connect with others who could support each other- @rarediseasedad was born. While connecting with people he didn't know was intriguing, connecting with people he did know was scary because he would have to open up about himself and what he was going through. With each interaction, he hid behind his Twitter handle. With the realization that he was a husband, dad, son, brother, nephew, uncle, cousin, friend, neighbor and acquaintance who happens to have a rare disease, rare disease didn't define him, but it was a part of him and couldn't be ignored. Adding his name to his account was how he decided to move forward, to be transparent and vulnerable in hopes that it would help someone else along the way. It was time to own his story and his advocacy journey has only further advanced his story into this podcast- Parents As Rare. Adam hopes to continue building a community of parents who are working through a rare disease, to connect, support and provide comfort for others. FOLLOW ADAM JOHNSON Twitter @RareDiseaseDad https://twitter.com/rarediseasedad Instagram @RareDiseaseDad https://www.instagram.com/rarediseasedad/ LinkedIn https://www.linkedin.com/in/adam-johnson-8a1473125 CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mitoaction/

ENERGY IN ACTION - EPISODE 058 Life with Leigh’s Krista Price is the mom of two children with Leigh's Syndrome. She shares her diagnosis journey and speaks to the importance of trusting your gut as a parent and advocating for your children to get answers. EPISODE HIGHLIGHTS Can you tell us about your mitochondrial disease journey? My daughter Ellie is 8 and my son Henry is 6. Ellie started having developmental issues when she was four months old, mainly delayed in meeting milestones. She wasn't turning over, was sluggish, and not as active as you'd expect a baby to be. Within a few years, Ellie was behind in gross motor skills, fine motor skills and speech. Henry didn't exhibit the same symptoms. After a referral to a developmental specialist, Henry and Ellie were both scheduled for an MRI. The results revealed that the mitochondrial area of both of my children's brains were damaged and we were referred to a mitochondrial specialist to confirm a Leigh's Syndrome diagnosis. My kids were both prescribed the mito cocktail and they both responded well within a month. How are your children doing today? They're doing really well. We just had a follow-up appointment with the mitochondrial specialist and they're progressing and happy with where they're at. We still have to deal with potential defects of organs related to Leigh's Syndrome and mitochondrial disease in general. Ellie has a heart defect called Wolff-Parkinson-White (WPW) syndrome. Both Ellie and Henry have eye turns which affects their vision. How do your kids manage having a rare disease? They're very resilient, but they don't talk about it much. Ellie is more aware of the disease and the physical limitations of her body and it's been difficult to see her struggle with that. She's learning to navigate situations that arise at school. What advice do you have for parents newly on their diagnosis journey or parents that suspect something is not right with their child? You know your child more than anyone. If you think something is wrong, something is off, or something should be addressed by the doctor, challenge the doctor. Speak up and don't be afraid to. As a caregiver, how do you find the balance of caring for your kids and caring for yourself? I have learned the importance of managing my mental health. I think humor is so good to have in your life. I get comedic relief wherever I can. Educating myself about Leigh's Syndrome has helped me to cope as well. It's important to feel the hard feelings and then move on. CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.

ENERGY IN ACTION - EPISODE 057 TJ Strong Jackie Bautz is the sibling to TJ, who has a mitochondrial disease called MELAS. She shares the story about her brother's diagnosis and what her family is doing to raise awareness and push for a cure. EPISODE HIGHLIGHTS Can you tell us about your family and your brother's diagnosis? I come from a family with five siblings including myself and my younger brother TJ, who is 7 years younger. When TJ was born, he had failure to thrive issues, but overcame them and had a normal childhood until he was in middle school. Upon completing a school hearing test, he was referred to a hearing specialist where it was determined that he had 40% hearing loss, which he was born with. He was fitted with hearing aids and he went on to graduate high school and college. Two weeks after his college graduation, my parents called to tell me something was wrong with TJ, that they were rushing him to the hospital and weren't sure what was wrong. During a week in the hospital, he had two major strokes and was released from the hospital without answers. A week later, TJ was diagnosed with the mitochondrial disease called mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). How has the MELAS diagnosis affected your relationship with your brother? It has been a learning process. Conversations are different since his strokes because he has to think about his responses, which can be uncomfortable. TJ still has the same interests as before so we can still connect on the same things as before, but there are limitations to what he can do, like working or driving. How have your parents dealt with TJ's diagnosis? They're very strong, but their plans for their lives has changed in that they moved to Florida to retire and travel, but they're caring for TJ and they can't leave him for more than a couple of hours at a time. It's been difficult, but they've stayed very strong. Is anyone else in your family a genetic carrier for MELAS? TJ is the only carrier. My mom and I underwent genetic testing and my mom isn't a carrier. This originated with TJ, which is even more rare. Can you share about TJ Strong? TJ Strong originated the first week when TJ was still in the hospital. We had t-shirts made and we started researching the disease to see what we could do for TJ and also the community. I came across MitoAction and we do a lot of fundraising and get involved in any events that we can. I'm running the Falmouth Road Race for MitoAction this August for the third year. RESOURCES & LINKS MENTIONED Falmouth Road Race https://falmouthroadrace.com/ https://raceroster.com/events/2022/56070/the-2022-asics-falmouth-road-race/pledge/participant/14582580 CONNECT WITH MITOACTION Website https://www.mitoaction.org/

ENERGY IN ACTION - EPISODE 051 Top 10 Tips for Empowerment & Being Your Own Advocate Cristy Balcells is the Associate Director of Patient Advocacy and Public Policy for Zogenix and the mother of Eva, who has Leigh Syndrome, a type of mitochondrial disease. Christy joins me for a conversation around empowerment and shares her list of 10 tips for being a great mitochondrial disease advocate for yourself or someone you care for. EPISODE HIGHLIGHTS Become an expert in your own disease Get an accurate diagnosis because without a specific diagnosis, a lot of doors are closed to clinical trials, insurance coverage, participating in a patient registry or general eligibility for treatment. After you have a diagnosis, become an expert on your disease and diagnosis because no one will be invested in it like you are, whether for your child or yourself. Know your baseline Baseline is a medical concept important for clinical trials. Determine your baseline by considering your average good days and bad days. Know and document your baseline so if you start a new treatment or therapy, you can identify how it's affecting your disease. Tell people about your disease and know how to ask for support To set boundaries, use a script and be specific that you're not seeking advice, only support. Practice saying, "I'm going to talk to you about something I'm dealing with and I don't need your advice. I just want you to hear me and be there for support". If someone asks how they can help, provide options that would be helpful. Reflect like an interviewer Allow questions to serve as an opportunity to raise awareness about your disease and always restate a question in your answer. Keep good records Use technology to stay organized and ensure your medical records are accessible. Keeping thorough and well-organized records is easier for you, but also helps when you have an opportunity to participate in a clinical trial, research study or equipment grant. Stay informed Subscribe to all of the newsletters on patient sites because knowledge is power. Set up Google alerts for keywords which will provide you a periodic digest around the keyword. You can also stay informed by joining social media or local support groups. Prioritize your symptoms and set goals You won't be able to address every concern in every appointment, so prioritize your symptoms to discuss them with your physician. Daily tracking of your baseline data will help you know if symptoms are improving or getting worse and know if the symptom should be prioritized at your next check-up. Be a micro influencer Documenting your journey can spread awareness to other people. Micro influencers in the disease space are respected and powerful because they make a difference. Hire yourself You are the Director of Communications for yo

PARENTS AS RARE - EPISODE 055 Dr. Stephanie Mihalas - Find Your Balance, Find Your Center Dr. Stephanie Mihalas is a licensed psychologist, nationally certified school psychologist and a mental health and chronic illness advocate. She's also a rare disease mom and she has a lot of valuable insight to share with parents. EPISODE HIGHLIGHTS Can you introduce yourself and tell us where your rare disease journey began? I'm a psychologist and mental health and chronic advocate in Los Angeles, California. I'm also a wife and parent to a daughter in kindergarten. I've had chronic illness since I was 16 years old, but my rare disease journey began about a year after having my daughter. How do you navigate rare disease with your husband and daughter? With my training as a child psychologist, this weighs on me a lot. I know the things that create a space for a developing child and I feel like I'm failing or can't give my daughter the perfect space. We try to have transparency to the best of our ability that is appropriate for her. She knows I have an illness, she she's my injections, sees my medications and she knows what's going on. We have appropriate discussions so that when things change, I'm able to reference it so she doesn't internalize that she has done something wrong, as kids often do at her age, and help her to deal with frustration, sadness and feelings in an open way. How can you talk to kids in a developmentally appropriate way about rare disease or chronic illness? It's important to have a continuing dialogue, even as kids get older, and never to take for granted that a child through different stages needs conversations around the illness or disease. Children, teens and young adults carry an immense weight when a parent has a chronic illness or rare disease and it's important for a parent to take responsibility and check in with them periodically. With younger kids, language can be difficult, so incorporating movement during a conversation can be helpful. You can throw a ball, take a walk or do art. If a child doesn't want to talk, don't push it. Also make available someone for a child to talk to that isn't you, like a therapist, another family member or clergy. CONNECT WITH STEPHANIE The Center for Well Being https://askdrstephanie.com/ Twitter @askdrstephanie https://twitter.com/askdrstephanie FOLLOW ADAM JOHNSON Twitter @RareDiseaseDad https://twitter.com/rarediseasedad Instagram @RareDiseaseDad https://www.instagram.com/rarediseasedad/ LinkedIn https://www.linkedin.com/in/adam-johnson-8a1473125

ENERGY IN ACTION - EPISODE 054 Advocate Like a Father David Faughn shares his story about his daughter Katherine, how his family became part of the mitochondrial disease community and about the advocacy work he's doing in his home state of Kentucky. EPISODE HIGHLIGHTS Tell us about your daughter Katherine and her diagnosis journey. Katherine hit all of the typical milestones for the first six months after she was born. At almost a year old, when we were expecting she'd be walking independently, she hit a plateau. We were no longer seeing a rapid development of her motor skills. Despite assistance through physical therapy and occupational therapy, Katherine still wasn't able to walk more than a couple steps without falling. At two years old, she was referred to a neurologist for an MRI and we started our journey with an incorrect diagnosis of Infantile Neuroaxonal Dystrophy (INAD), a rare progressive disorder, based on what the doctors gathered from the MRI. We got to know other INAD families, researched a lot of medical literature, connected with experts and quickly became convinced that Katherine didn't have INAD. Whole-exome sequencing results later revealed that Katherine had a mutation to a recessive nuclear gene called NUBPL. What was it like to push through what you suspected was an incorrect diagnosis? That was the first lesson we learned- that as Katherine's parents we had to fight. Getting a diagnosis is hard, treatments are rarely available, every step of the way there are hurdles to jump for the insurance company. The insurance company didn't want to cover genetic testing to confirm a diagnosis, which could open up treatment options. The rejection made me angry and I appealed to the insurance company, eventually getting the genetic testing approved. Can you tell us about your work on Kentucky Revised Statute 304.17A-258? The bill we got passed requires private insurance to cover mito cocktails. We started with an insurance denial for a mito cocktail for Katherine. I appealed to the insurance company to get the prescription for Katherine, but also started looking into getting the law changed so other families didn't have to go through what we did. I discovered a law that mandated private insurance covered certain therapeutic food, formulas and supplements for certain metabolic or genetic conditions. Looking at the way the statute was written, I believed it would cover mito cocktails. I decided to attempt to get the statute amended to include mito cocktails and remove the compounding pharmacy restriction. RESOURCES & LINKS MENTIONED NUBPL Foundation Website http://www.nubpl.org/ NUBPL Foundation Facebook Page https://www.facebook.com/nubpl.org Kentucky Revised Statute 304.17A-258 https://apps.legislature.ky.gov/law/statutes/statute.aspx?id=45441#:~:text=Page%201-,304.17A-258 CONNECT WITH MITOACTION

ENERGY IN ACTION - EPISODE 053 Finding Help with the Cost of Medications Carla Dellaporta is the Director of User Engagement for NeedyMeds, a 501(c)(3) national non-profit that connects people to programs that will help them afford their medications and other healthcare costs. EPISODE HIGHLIGHTS What is NeedyMeds? NeedyMeds is a national non-profit with a mission to educate and empower those seeking affordable healthcare. We're here to connect people, free and anonymously, to healthcare cost-saving programs and educational resources. How does a patient qualify for a patient assistance program? If someone is having difficulty affording any healthcare expense, we encourage people to turn to NeedyMeds. Our experts will make a connection to a program that will help save on expenses. Each program has eligibility requirements and they vary. In speaking with a call center counselor or using our website, someone will know right away if they qualify for a program. In addition to medication assistance, what other healthcare cost-saving programs are available? After a call center counselor assists with any medicine expense programs available, they use the diagnosis-based assistance program tool to identify any additional savings for expenses related to a particular diagnosis. This tool can also be used on our website. There are programs available to help with expenses for equipment, electronics, vehicle repairs and modifications, living expenses, household expenses, medical expenses and even respite expenses. What is the drug discount card and how do you use it? The NeedyMeds drug discount card is free and can save on medication costs when used at over 65,000 pharmacies nationwide. There's a pharmacy search tool on the website, or you can call the toll free number, to find a pharmacy near you that accepts the NeedyMeds drug discount card. The NeedyMeds drug discount card can be used for prescriptions and also over-the-counter medications and supplements when your healthcare provider writes a prescription for them. Not every drug will have a savings option, but we have a drug savings calculator on our website where you can see what a medication will cost in advance of visiting a pharmacy. Do you have to have insurance to qualify for assistance programs? You can use the drug discount card with or without insurance. For other healthcare cost-saving programs, it will depend on the eligibility criteria for each program. RESOURCES & LINKS MENTIONED NeedyMeds Website needymeds.org Marcel’s Way Family Fund mitoaction.org/marcelsway/ NeedyMeds Drug Discount Card https://www.needymeds.org/drug-discount-card Partner with NeedyMeds

PARENTS AS RARE - EPISODE 052 Lisa Weinberger - Be Your Own Advocate, Listen To Your Body, Take Control of Your Health, & Ask Questions Lisa Weinberger is a wife, mother, digital marketing professor and business owner with over 20 years of experience designing and leading corporate marketing programs. We talk in this episode about balancing work and family while living in the world of rare disease and chronic illness. EPISODE HIGHLIGHTS When you were navigating a diagnosis, how did that affect your family at the time? I was diagnosed with a rare disease called Pemphigus Vulgaris in 2018 after 30 years of varying symptoms. My disease rarely showed physical symptoms and I wasn't open with my daughter or in-laws who lived just down the street. Around the same time that I began getting blisters and was concerned about hiding them from my daughter, my husband had a heart attack which captured her attention more. Afterwards, I spoke with her about what was going on, explaining my auto-immune disease and the symptoms I was experiencing. When things are especially challenging because of your disease, how do you push through the days? I have a glimmer of hope and I know I've been in similar situations before. I am a fighter and have a mentality to keep going. I push myself and I'll continue to push myself with time to rest as needed, but I do tend to overdo it and not pace myself during the times I feel the best. How do you adjust your life as a result of your circumstances and keep up with your family's activities? My husband did a lot when my daughter was younger, like going to birthday parties and after-school activities. My good hours are earlier in the day, so we'd go to the park and spend time with her during the earlier hours of the day. We didn't have help at the time, so my husband and I worked together to balance everything. Now that my daughter is a teenager, she's more settled and independent. What advice do you have for parents listening? Children observe and understand more than we sometimes think they can, especially if they're a little older and have access to the internet. If they do have the ability to research things on the internet, sit down with them and show them where to find good sources of information about your disease. If your child is able to talk about it, keep communication open with them. CONNECT WITH LISA Website https://pearlywrites.com/ Twitter @LisaWeinberger https://twitter.com/lisaweinberger Linkedin @pearlywrites https://www.linkedin.com/in/pearlywrites/ RESOURCES MENTIONED It's OK That You're Not OK: Meeting Grief and Loss in a Culture That Doesn't Understand https://www.amazon.com

ENERGY IN ACTION - EPISODE 050 You Never Give Up Hope in Life Devon Gottfurcht shares her experience and journey with a mitochondrial disease called chronic progressive external ophthalmoplegia (CPEO). Her message is one of redirection, personal advocacy, perseverance and never giving up hope. EPISODE HIGHLIGHTS When did you first experience symptoms? It started with extremely dry eyes, light sensitivity, infections and other eye issues. Initially my eye doctor wasn't sure what was causing my symptoms. One day, I couldn't see and went back to see my eye doctor where I received a referral to a cornea specialist. I was referred to another specialist for a biopsy and received a diagnosis of a mitochondrial disease called chronic progressive external ophthalmoplegia (CPEO). How was your wedding centered around mitochondrial disease? Watching a sports program one day, I noticed Ken Rosenthal was wearing a mito bow tie. I wrote to him, introduced myself, told him I was getting married and that I noticed his bow tie. I ordered the same bow ties for the men in the wedding party and the bridesmaids wore green dresses. During the wedding, my nephew spoke about the meaning of the bow ties and the disease they represented. My wedding was one of the best days of my life, I felt great and I had the wedding of my dreams. What has life been like since your wedding? I have since begun having issues with my legs and my disease has now spread to my legs and arms. I've been forced to slow down. I had to mourn the loss of my career and success. But I work from home for my husband's law firm now and I'm finding my purpose despite CPEO and its progressing effects. RESOURCES & LINKS MENTIONED Bride Raises Mito Awareness https://www.mitoaction.org/bride-raises-mito-awareness/ Luna https://www.getluna.com/ CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mitoaction/ LinkedIn https://www.linkedin.com/company/mitoaction

ENERGY IN ACTION - EPISODE 049 Living Rare - An Adult's Perspective Fred Jacobowitz has been diagnosed with Carnitine Palmitoyltransferase Type II (CPT-II/CPT2) Deficiency, a type of fatty acid oxidation disorder. He shares his diagnosis experience, lessons learned and what his rare disorder journey has been like. EPISODE HIGHLIGHTS When did your CPT2 symptoms begin? I had difficulty keeping up with other kids when I was young. In high school, I excelled in the sport of swimming, but after workouts I had difficulty climbing out of the pool. In college, I kept getting rhabdomyolysis, the breakdown of damaged muscle which results in the release of muscle cell contents into the blood, which can further lead to kidney failure. It wasn't until I was an adult that I was diagnosed with adult onset myopathic CPT2. At what point did you realize your symptoms were serious and you needed to seek answers? Years later after I was married and had kids, I started experiencing chest pain and was told I was having a heart attack after undergoing a stress test. My wife introduced me to a cardiologist who just started his own practice. He looked over my medical history and determined I didn't have a heart attack at all. I told him about my symptoms and he recalled a speaker he heard at a conference and said I had some sort of metabolic muscle disorder. He referred me to an endocrinologist, who was confident that I had CPT2 and could prove it through a series of tests. Not the symptoms I experienced from childhood, but the heart attack is what brought me to a diagnosis. What primary symptoms do you experience with CP2? People express symptoms differently at different times. For me, if I overdo it I get tired, I get muscle fatigue and lightheaded. I started taking Triheptanoin (C7), which helps to manage my symptoms in addition to diet and exercise. Before I started taking C7 I would get very sick and now I get sick and recover like a normal person would. How did receiving a diagnosis impact your life? I learned about what my diet should be like, what exercise should include and how to walk the tightrope between building and breaking muscle. My physician suggested I participate in a clinical trial, which was a turning point in my journey. RESOURCES & LINKS MENTIONED What can you do despite CPT Type II (CPT2) Facebook Group https://www.facebook.com/groups/CptType2/about/ Ultragenyx https://www.ultragenyx.com/ 2022 International Metabolic Conference https://www.mitoaction.org/internationalmetabolicconference/ CONNECT WITH MITOACTION Website https://www.mitoaction.org/

PARENTS AS RARE - EPISODE 048 Parenting & Living Life With Chronic Pain - Ross McCreery Ross McCreery is a dad, husband, advocate, writer and speaker. In 2006, Ross was diagnosed with a rare disease called Complex Regional Pain Syndrome (CRPS). In 2016 he founded CRPS Awareness Day in Saskatchewan to educate the public and raise awareness for those living with the disease. Ross also serves as a board member for the SaskPain Foundation where he hopes to help improve and change the lives of those living with chronic pain. He also advocates and speaks to serve as a voice for those who suffer chronic pain, he's authored several published pieces, appeared on television programs and believes in the power of a strong community of rare disease advocates with diverse voices who can encourage change and progress for all. EPISODE HIGHLIGHTS Can you tell us a little bit about yourself and your rare disease diagnosis story? I was successful in my career, I was married and life was going in the direction I wanted it to go. I had just came back from China after adopting my first daughter and had what should have been a simple surgery. The swelling and loss of mobility in my hand that resulted was the onset of my disease symptoms and Complex Regional Pain Syndrome (CRPS) diagnosis journey. What was your experience like discussing your CRPS diagnosis with your children? We say it how it is and believe in transparency. From the earliest age that they could understand, we had conversations with them about how things needed to be done differently. Having conversations with our kids and being honest and up front with them was a daily occurrence, especially as we adapted and changed. How have your conversations evolved as they've grown older? Conversations are simpler now because they understand better and have a background living with it for awhile. We don't have to explain as much, they're more understanding of the situation and can figure out a lot themselves. We still have conversations with them at times as things continue to happen or change. What wisdom do you have to share with listeners? We don't value our stories enough. Our stories are our power and it's the power of the story that touches people. I encourage people to share their story. CONNECT WITH ROSS Contact https://painfullyoptomistic.com/contact-me Instagram https://www.instagram.com/painfullyoptomistic/ Twitter https://twitter.com/Rossco006 Facebook https://www.facebook.com/Painfully-Optomistic-192150737539022/ RESOURCES MENTIONED Painfully Optomistic Blog

ENERGY IN ACTION - EPISODE 047 The Strength of a Mom Tonie DeLorenze is impacted by mitochondrial disease herself and also has three children with mitochondrial disease. EPISODE HIGHLIGHTS What has your journey been like with mitochondrial disease? I was an athlete in high school, but always had issues with breathing and lung capacity. As I got older, more symptoms developed, all related to my endocrine system. I had twins in 1995, had another child in 1997 and another in 2000. In 2000, I had a heart attack, had to have my thyroid removed, developed PCOS and a lot of other endocrine-related issues began surfacing. I discovered that I had mitochondrial disease through testing performed on my children, who also have mitochondrial disease. What is your advice for parents who feel they need to advocate for their children and push for a diagnosis? I believe you know your child better than anyone. Do your research, ask questions and push for answers. What's your advice for parents newly on the diagnosis journey? Control your fear. It's normal for a parent or someone who doesn't feel right to be afraid of what it could be. I had no one to talk to or turn to for support, but if you have someone to support you, seek them out. If you don't, reach out to me. As difficult as it is, stay positive and stay strong. It doesn't help anyone if you're not in a headspace of positivity. Lastly, never ever compare your child to another child. As a caregiver, find a way to carve time out for yourself and squeeze in selfcare. From a mother's perspective, what did you need from those around you that you didn't get when you were navigating your journey with young kids? Just be there to talk and offer a sense of normalcy. I was so tired and would have loved to have time to sleep and shower. I went through a dark time and it didn't have to be that way. It was bad enough that my kids were sick, but with a little support from people who were in my life before my kids were born, it would have been life changing for me. RESOURCES & LINKS MENTIONED Peach: An Exceptional Teen's Inspiring Journey for Universal Acceptance https://www.amazon.com/Peach-Exceptional-Inspiring-Universal-Acceptance/dp/1539367339/ref=tmm_pap_swatch_0?_encoding=UTF8&qid=1646425842&sr=1-1 Peach: Celebrating Life in the Shadow of Death https://www.amazon.com/Peach-Celebrating-Life-Shadow-Death/dp/198750142X/ref=sr_1_1?qid=1646425904&refinements=p_27%3AJenevieve+%28Peach%29+Woods&s=books&sr=1-1&text=Jenevieve+%28Pe

PARENTS AS RARE - EPISODE 046 Family Coping, Communication, & Mental Health Resources - Dr. Jennifer Young, Postdoctoral Scholar, Biomedical Ethics - Stanford University Dr. Jennifer Young is a trained marriage and family therapist who has focused her research on families with rare genetic conditions. Her goal is to improve family coping, communication, and access to mental health resources for the rare disease community, especially for the under-served. EPISODE HIGHLIGHTS Can you introduce yourself? I'm a marriage and family therapist by training and I have a PhD in family science, the study of family relationships. Most of my work has been around families with rare genetic conditions. I've been working closely with the undiagnosed diseases network at Stanford and doing in-depth interviews with families. My goal is to build awareness about the challenges for individuals and families in their relationships and to build awareness for mental health providers so they can meet their unique needs. How does your work impact your mental health? One of the first lessons I learned is how to be present for clients, but to put that outcome in a box and move on. It's not always easy. Having a supervisor and solid group of colleagues to debrief and get feedback is helpful. How does someone find resources if they need support? A primary care provider will likely know someone they can refer. Insurance companies will also have covered providers available online or by calling. Psychology Today has has a therapist locator tool to perform a detailed search and refine results. What's most important is feeling connected to your therapist, so ask for a referral to another therapist if you need to. For families going through genetic testing for various health conditions, how do you help people cope with a VUS outcome or lack of answers? It's important to focus on what someone has control over, like managing symptoms and ensuring they're getting quality care for symptoms that can be managed. A lot of times, the benefit of whole genome sequencing or whole exome sequencing is more psychological or social, not clinical. What advice do you have for parents going through diagnosis themselves? The fear and emotion of parents often contributes to the weight of conversations with children. Kids are very resilient, but it's important to manage emotions so children don't feel the need to regulate a parent's emotions. Be in-touch with yourself and ensure you have the resources you need so you can have an open line of communication with your children. CONNECT WITH JENNI Twitter https://twitter.com/JenniYoungPhD Email youngjl@stanford.edu RESOURCES MENTIONED Psychology Today Therapist Finder https://www.psychologytoday.com/us FOLLOW ADAM JOHNSON

ENERGY IN ACTION - EPISODE 045 Live Life, Dream Big, Be Positive Stacy and Ari Goldberg share the story of their Mito Warrior. Rina lived an authentic be-positive life. She faced multiple medical challenges with resiliency and left a legacy of an award-winning film, The Magic Bracelet. EPISODE HIGHLIGHTS Can you tell us about Rina's mito journey? Rina had medical difficulties from the time she was born. She experienced fevers, overheating, developmental delays, low muscle tone, difficulty walking and other symptoms. She was diagnosed with mitochondrial disease in 2004. Shortly after, she suffered a metabolic stroke and she was given a nasogastric (NG) tube and feeding tube. Rina's blood pressure and heart rate required monitoring and caused her to be hospitalized several times. A jejunostomy tube, also called a J-tube, was placed to help her get constant fluids. Just after that, she had a port inserted to have IV fluids running 24/7 so she could live at home. In 2009, Rina suddenly couldn't walk after an infection in her legs. Despite treatment, Rina never walked independently again. We began a downhill journey of serious crises. A few months later, Rina's night nurse wasn't able to control her breathing and she was admitted to the hospital. Her treatment included being on a ventilator, which later required a trach tube and constant use of the ventilator to breathe. What is your advice for new parents on a diagnosis journey who want to advocate for their child? Every doctor is not an expert on every medical issue, so if you feel like a doctor isn't acknowledging a concern, find another physician. When finding a doctor and building your medical team, follow your gut and look for those who are open to listening and who are parent and child driven. Can you share about The Magic Bracelet? Rina was very creative, and with the help of a family friend, she took an interest in coming up with a film concept to bring attention to mitochondrial disease. She wanted to spread awareness through a fun and witty film. Medical truth and authenticity was important to convey in the film, but despite mitochondrial disease not having a cure, the film doesn't have a sad ending. Rina went on hospice in September 2010 and she asked me to promise to take care of her film and get it to Hollywood. The Make a Film Foundation took Rina's film on as a project and in December 2012, The Magic Bracelet, was produced in Hollywood. RESOURCES & LINKS MENTIONED Rina's Magic Bracelet Movie Facebook Page https://www.facebook.com/magicbraceletevent/ The Magic Bracelet Website https://www.rinasmovie.com/ Make A Film Foundation www.makeafilmfoundation.org CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook

ENERGY IN ACTION - EPISODE 044 Removing Barriers in Ultra-Rare Joining me in this episode are Desiree Magee & Ashley Rowland of CureARS, a non-profit organization dedicated to spreading awareness, connecting & providing support to affected families and funding research for the ultra-rare Mitochondrial ARS genes. EPISODE HIGHLIGHTS Desiree, can you introduce yourself and tell us how you're connected to the mitochondrial disease community? My 6 year old daughter Daphne was diagnosed at a year old after a six month diagnosis journey. My daughter's disease has two names- Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) and Combined oxidative phosphorylation deficiency 12 (COXPD12). Daphne is primarily affected by speech delay, hypotonia, and global delays in learning and performing everyday tasks. Ashley, can you introduce yourself and tell us how you're connected to the mitochondrial disease community? My daughter Aubrie is three and a half years old and she has a disease called leukoencephalopathy with ovarian failure (LKENP) from the AARS2 gene. She was diagnosed at 2 years old. Can you share about Cure ARS? It started as discussions around how we could raise money for research and how we could help our kids and other families. In order to fund a research project, we started the nonprofit. Our mission is to spread awareness, connect and provide support to affected families and fund research for the ultra-rare mitochondrial ARS genes in order to pave the way to suitable treatment options and ultimately a cure. Can you share details about the symposium coming up in February? The Mitochondrial ARS (Mt-aaRS) Genes Annual Scientific Symposium is a one day event on February 10, 2022 and will feature world-renowned doctors and researchers. The goal of the symposium is to bring worldwide collaboration between researchers and clinicians to build a stronger working relationship and put patient faces to the data and the impact they're making. Does Cure ARS have a patient registry? We have a registry through CoRDS at Sanford Health, which will be launching soon. RESOURCES & LINKS MENTIONED Daphne's Lamp https://www.daphneslamp.com/ Cure ARS https://www.curears.org/ Cure ARS on Facebook https://www.facebook.com/curears Mitochondrial ARS (Mt-aaRS) Genes Annual Scientific Symposium https://www.curears.org/symposium ARS Gene Community https://www.facebook.com/groups/ars.gene.community

PARENTS AS RARE - EPISODE 043 Cowden Syndrome & Male Mental Health - David Ross David Ross is a rare disease leader in men’s mental health. He plans and hosts valuable international support calls focused on men's mental health in the rare disease community. David is also a dad with a rare disease called Cowden Syndrome. EPISODE HIGHLIGHTS How did finding out about your disease shape your relationship with your daughter? I felt I wasn't supportive enough to my mother when she was facing Cowden Syndrome. When I was diagnosed with the same condition after she passed, while I couldn't go back and change how I supported my mother, I could support others. Looking back, I focused a lot on advocacy and my mother’s legacy. I've shifted my focus in the last year to my daughter and myself. My daughter needs more support and we need more time for us, and our relationship has become better because I've recognized and acted on that. When did men's mental health become a focus of your advocacy? Someone brought to my attention that a lot of men in the rare disease community didn't seek support or speak out about what they were going through. As I searched for my voice in the rare disease community, I decided to set up international group meetings for men who need a platform to share what they're going through and get mental health support. What was your experience opening up about your feelings, thoughts and struggles for the first time? After my mother passed away and in wanting to make a difference for myself and others, I felt strongly that I needed to speak out about what I was going through and how I was impacted. It has taken time to learn how to speak up, what to say and what not to say. While it was scary, connecting with others in the community continues to help me and inspires me to get my story out. What is your advice for other parents with a rare disease? Feel the feelings. There are so many feelings and emotions that come with chronic illness and rare disease, and you need to give yourself permission to feel all of them when they arise. Sometimes writing down what you're going through can help to express your feelings. RESOURCES MENTIONED ONCE UPON A GENE - Episode 114 - The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman https://effieparks.com/podcast/episode-114-noah-siedman Rare Revolution Magazine, Advice From Rare Dads: Top Tips for Rare Parents https://rare-revolution-wp-images.s3.eu-west-1.amazonaws.com/wp-content/uploads/2021/10/19100033/Top-Tips-from-RARE-Dads-for-RARE-Parents-Final.pdf Rare Disease Male Support Group

ENERGY IN ACTION - EPISODE 042 Empowering Parents Nationwide Marsha Quinn is the parent of two children who have Autism. As the Co Executive Director for Parent to Parent USA, she joins us to share the organization's mission and the resources they provide to parents of children with disabilities. EPISODE HIGHLIGHTS Can you tell us about Parent to Parent USA? Parent to Parent USA was started about 50 years ago with a group of moms in Nebraska who wanted to provide parents of children with disabilities with peer to peer emotional support. Parent to Parent USA now has 36 statewide alliance members across the US and we're growing to all 50 states and territories. The mission of Parent to Parent USA is to ensure that all families have access to peer to peer emotional support. A family of an individual with any disability or special healthcare need can contact us for help and we will match them with a trained support parent. It's a free intervention that we find helps people get through life and get through their child's disability or diagnosis. What does volunteer training consist of? It's all research and evidence-based training. We train on self care, cultural competency or humility, active listening, grief and many other elements. Each of our alliance members have their own training. Part of the process is ensuring each person is put into a database and categorized so they can be matched based on varying parent needs or diseases. How does Parent to Parent USA expand and develop into additional areas? We've created strong and robust committees between the board and volunteers from the network, part of which is a membership committee. One of the membership committee's goals is to grow to all 50 states, to better engage with our existing members, and offer more value for memberships through training, engagement, and networking opportunities. As a committee, we're seeking other organizations in states we're not in that we can partner with, then we reach out to see if they're interested in adopting our program. CONNECT WITH PARENT TO PARENT USA Website https://www.p2pusa.org/ Email memberinfo@p2pusa.org Facebook https://www.facebook.com/p2pusa Instagram https://www.instagram.com/p2pusa/ RESOURCES MENTIONED Alliance Member Map https://www.p2pusa.org/parents/ CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook

ENERGY IN ACTION - EPISODE 041 EveryLife Foundation Newborn Screening The EveryLife Foundation is dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policies that advance the equitable development of treatments, cures and life-saving diagnoses. Claire Ellis and Dylan Simon join me to discuss the importance of the Newborn Screening Saves Lives Reauthorization Act. Many rare disease patients are found through the newborn screening process, a full panel containing 35 disease screens. EPISODE HIGHLIGHTS What is newborn screening? Newborn screening detects conditions that, if left untreated, can cause disabilities, developmental delays, serious illness or even death. If diagnosed early, many of these disorders can be managed successfully. Newborns are screened for genetic, metabolic, hormonal, and functional conditions that are not otherwise apparent at birth. In addition to testing, newborn screening programs consist of educational and resource materials for parents and training for healthcare professionals. How can the community get involved? Anyone can get involved by reaching out and contacting their senators about Senate Bill 350 and the importance of this legislation for the community. Let them know that you support the Newborn Screening Saves Lives Reauthorization Act as it is currently written. Why don't all 50 states conduct the same newborn screening? The disorders that newborns are screened for is set at the state level and each state implements their screening program differently. We're working to pass RUSP Alignment Legislation so that as disorders are added to the RUSP, states will automatically add these disorders to their newborn screening panels. The newborn screening legislation aims to align states, implement a timeline for screening to begin, and ensure resources are available for states to fund newborn screening panels and any disorders added to it in the future. How is a new diagnosis added to the Recommended Uniform Screening Panel (RUSP)? This is done through the Federal Advisory Committee, Heritable Disorders in Newborns and Children, which is under the Health Resources and Services Administration (HERSA). The advisory committee looks at properly identifying newborns, properly treating newborns and the overall benefit. How many newborns are identified annually through newborn screening as having one of the 35 diseases? The current estimation is approximately 1 in 300 newborns, though some states are not testing for all 35 diseases on the federal RUSP. CONNECT WITH EVERYLIFE Website https://everylifefoundation.org/ EveryLife Foundation for Rare Diseases on Facebook https://www.facebook.com/EveryLifeOrg/ EveryLife Foundation @EveryLifeOrg on Twitter https://twitter.com/EveryLifeOrg

ENERGY IN ACTION - EPISODE 040 Silver Linings with Sarah Kate Sarah Kate Frey is a mitochondrial disease patient who is always looking on the bright side, seeking silver linings in the darkest experiences. She is the author of Alice Eloise’s Silver Linings: The Story of a Silly Service Dog and is in the process of writing a second book about her friend and service dog, a doodle named Alice Eloise. EPISODE HIGHLIGHTS How are you connected to the mito world? Like a lot of patients, my path to a mitochondrial disease diagnosis was not a straight line. At about 12 years old, I came home from horseback riding camp really sick with a high fever and a staph infection in my throat that had me sick for months. I landed in the ER numerous times in a year for extreme dehydration and high inflammation markers. The following year in dance class, I sprained my ankle. Within the week, I received a Reflex Sympathetic Dystrophy (RSD) and Complex Regional Pain Syndrome (CRPS) diagnosis. Not long after, I had extreme GI symptoms and saw a gastric motility doctor who did gastric emptying studies and further testing. I was diagnosed with Gastroparesis and then later with Hemophagocytic lymphohistiocytosis (HLH). What led to a mitochondrial disease diagnosis was tying everything together. Can you tell us about Alice Eloise and how you came to author children's books? I love dogs and wondered how a service dog could help me. My sweet doodle, Alice Eloise, and I are a self-trained service dog team. She's my silver lining through being sick, so silver linings has become a mission for me. I decided to write a book about a girl and her dog, about silver linings and looking on the bright side. When Alice Eloise came along and stole my heart, it was time to tell our story. And that's what we're doing. The first book is written through the puppy eyes of Alice Eloise and her perspective of becoming a service dog. The biggest lessons from the story are no matter what you're going through, look for silver linings, never give up and seek the beauty in the world. What will the second book be about? It's about a trip to the zoo with Alice Eloise, which started out as a scene in the first book. We ended the first book after her service dog test, so I decided to add to the story with another book. The premise of this book is about being someone else's silver lining, and knowing that some of the best silver linings in life are the people around us and our interactions with one another. RESOURCES MENTIONED Alice Eloise’s Silver Linings: The Story of a Silly Service Dog https://sarahkatessilverlinings.com/once-upon-a-silver-lining-store/ Sarah Kate's Silver Linings Blog https://sarahkatessilverlinings.com/blog/ CONNECT WITH MITOACTION Website https://www.mitoaction.org/